Clinical trials: Genetic Association Studies
Child Development
LIFE Child (LIFE Leipzig Research Centre for Civilization Diseases)
The Leipzig Research Centre for Civilization Diseases (LIFE) Child Study is a prospective longitudinal population-based study with a life course approach to health and disease.
- Trial name
- NCT02550236
- Where
- Germany
- Volunteers
- 7,000 people, healthy volunteers welcome
- Sponsor
- University of Leipzig
Mental Health, Child Wellbeing
Generation Victoria Cohort 2020s: A Statewide Longitudinal Cohort Study of Victorian Children and Their Parents
Generation Victoria (GenV) is a longitudinal, population-based study of Victorian children and their parents that will bring together data on a wide range of conditions ,exposures and outcomes.
- Conditions
- Mental Health, Child Wellbeing, Infant Health, Child Health
- Trial name
- GenV (NCT05394363)
- Where
- Australia
- Volunteers
- 150,000 people, healthy volunteers welcome
- Sponsor
- Murdoch Childrens Research Institute
Osteoarthritis, Postoperative Pain
Acute Pain Genomic Study
In preparation for future large-scale genome wide association studies, reliable methods must be developed for measuring perceived pain and for estimating the effects of potentially confounding factors such as appropriate…
- Trial name
- NCT01557751
- Testing
- Whole blood for genotyping
- Where
- United States
- Volunteers
- 156 people
- Sponsor
- University of Pittsburgh
Advanced Solid Tumor
Berzosertib Human Mass Balance Study (DDRiver Solid Tumors 208)
The study was conducted in two periods, Period 1 (mass balance) and Period 2 (extension). The purpose of Period 1 of this study was to provide a quantitative characterization of the mass balance, rates and routes of elimination…
- Trial name
- NCT05246111
- Testing
- [14C]Berzosertib, Berzosertib, Topotecan
- Where
- 2 sites in Hungary
- Volunteers
- 6 people
- Sponsor
- Merck Healthcare KGaA, Darmstadt, Germany, an affiliate of Merck KGaA, Darmstadt, Germany
Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue, Pyoderma Gangrenosum
Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin Diseases. After collecting informed consent, all patients' clinical phenotype is graded at inclusion with a detailed case report form and a…
- Conditions
- Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue, Pyoderma Gangrenosum, Erosive Pustular Dermatosis of the Scalp, Sweet's Syndrome
- Trial name
- NEUTROGENE (NCT01952275)
- Testing
- Collection of biological samples
- Where
- Switzerland
- Volunteers
- 600 people
- Sponsor
- University of Zurich
Melasma, Treatment of Stable Melasma
Clinical Efficacy and Mechanisms of a Topical Azone-Tranexamic Acid-Aloe Polysaccharide Gel in the Treatment of Melasma
Melasma is a common pigmentation disorder among young and middle-aged women, characterized by symmetrical brown-black patches on the face.
- Conditions
- Melasma, Treatment of Stable Melasma, Tranexamic Acid, Laurocapram
- Trial name
- NCT07530016
- Testing
- Ligustrazine - tranexamic acid - aloe polysaccharide composite gel
- Volunteers
- 10 people
- Sponsor
- The First Affiliated Hospital of Xinxiang Medical College
Nicotine Dependence
Effects of Nicotine on Brain Opioid Receptors
A substantial body of evidence implicates the endogenous opioid system, and the mu opioid receptor (MOR) in particular, in the reinforcing effects of drugs of abuse, including nicotine.
- Trial name
- NCT01040338
- Testing
- Nicotine
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Cardiac Amyloidosis, Transthyretin Amyloidosis
ATTRACT-52: Primary Care Cardiac Amyloidosis Screening in Ordu, Turkey
Cardiac amyloidosis is a progressive infiltrative cardiomyopathy, most commonly related to transthyretin (ATTR) misfolding. Although considered rare, emerging data suggest higher prevalence in specific regions, including the…
- Trial name
- ATTRACT-52 (NCT07238426)
- Where
- Turkey (Türkiye)
- Volunteers
- 800 people
- Sponsor
- Kotyora Family Medicine Health Management and Education Association
Myopia
Clinical and Genetic Studies in Families With Myopia and Related Diseases
This study will examine the inheritance of myopia in families of various nationalities and ethnic backgrounds to identify gene changes that cause myopia or similar diseases and to better understand these conditions.
- Trial name
- NCT00272376
- Where
- 2 sites in United States, China
- Volunteers
- 851 people
- Sponsor
- National Eye Institute (NEI)
Wolfram Syndrome, Diabetes Mellitus
Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study
In this study, the investigators hypothesize that studying monogenic variants with strong effect associated with severe insulin deficiency of Wolfram syndrome will provide important insights into the more complex type 1 and type…
- Conditions
- Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Deafness
- Trial name
- NCT02841553
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- Washington University School of Medicine
Age-related Macular Degeneration
Prophylactic Ranibizumab for Exudative Age-related Macular Degeneration
This study will determine whether quarterly injections of Ranibizumab may prevent eyes with dry age-related macular degeneration from progressing to wet age-related macular degeneration (AMD).
- Trial name
- PREVENT (NCT02140151)
- Testing
- Ranibizumab 0.5mg
- Where
- 4 sites in United States
- Volunteers
- 108 people
- Sponsor
- Southern California Desert Retina Consultants, MC
Alzheimer Disease, Alzheimer Dementia
Alzheimer's Autism and Cognitive Impairment Stem Cell Treatment Study
The purpose of the study is to evaluate the use of autologous Bone Marrow Derived Stem Cells (BMSC) as a means to improve cognitive impairment as occurs in Alzheimer's Disease and other dementias and to improve behavior and…
- Conditions
- Alzheimer Disease, Alzheimer Dementia, Vascular Dementia, Lewy Body Disease
- Trial name
- ACIST (NCT03724136)
- Testing
- Intravenous Bone Marrow Stem Cell (BMSC) Fraction, Intranasal Topical Bone Marrow Stem Cell (BMSC) Fraction, Near Infrared Light
- Where
- 3 sites in United States, United Arab Emirates
- Volunteers
- 100 people
- Sponsor
- MD Stem Cells
Intrahepatic Cholestasis of Pregnancy, Genetic Mutation
Bile Acids Metabolism and Genetic Mutation Profile in the Intrahepatic Cholestasis of Pregnacy in Indian Population
Intrahepatic cholestasis of pregnancy (ICP) is a disorder characterized by itching, elevated fasting serum bile acids ≥10μmol/L (and elevated serum transaminases), with increased risks of perinatal complications, including…
- Conditions
- Intrahepatic Cholestasis of Pregnancy, Genetic Mutation, Health Related Quality of Life
- Trial name
- ICP (NCT05691036)
- Where
- India
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Post Graduate Institute of Medical Education and Research, Chandigarh
Long Anterior Zonules
Morphological-Gene-Clinical Phenotype Correlation Study of the Long Anterior Zonule
Long anterior zonules (LAZ) is an anatomical anomaly of the anterior segment in which zonular fibers extend abnormally forward onto the anterior lens capsule.
- Trial name
- NCT07549711
- Testing
- Control, Long anterior zonules, LAZ Pedigree
- Where
- China
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Fuzhou Eye Hospital
Gene Mutation-Related Cancer, Genetic Predisposition
COsegregation of VARiants in Panel of Genes
The aim of the COVAR project is to achieve reliable classification of as many variants of interest as possible from the French OncoGenetics Database (FrOG, https://frog-db.fr/) in order to use them for the genetic counseling.
- Trial name
- COVAR (NCT01689584)
- Testing
- salivary kit
- Where
- 62 sites in France, Guadeloupe and 3 more
- Volunteers
- 11,000 people
- Sponsor
- Institut Curie
Bladder Cancer, Brain and Central Nervous System Tumors
Study of Genes and Environment in Patients With Cancer in East Anglia, Trent, or West Midlands Regions of the United Kingdom
RATIONALE: Studying samples of blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Conditions
- Bladder Cancer, Brain and Central Nervous System Tumors, Esophageal Cancer, Intraocular Melanoma
- Trial name
- NCT00757614
- Testing
- DNA analysis, polymorphism analysis, laboratory biomarker analysis
- Where
- United Kingdom
- Volunteers
- 14,000 people
- Sponsor
- Cancer Research UK
DOCK8 Deficiency
Pilot Study of Reduced-Intensity Hematopoietic Stem Cell Transplant of DOCK8 Deficiency
Background: -DOCK8 deficiency is a genetic disorder that affects the immune system and can lead to severe recurrent infections and possible death from infections or certain types of cancers, including blood cancers.
- Trial name
- NCT01176006
- Testing
- Reduced-intensity hematopoietic stem cell, Fludarabine(Fludara, Berlex Laboratories), Cyclophosphamide(CTX, Cytoxan)
- Where
- United States
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Hemochromatoses, Genetic
Transferrin Saturation and Asthenia in Hemochromatosis
Observational study.
- Trial name
- HEMOSAT (NCT03356548)
- Where
- France
- Volunteers
- 260 people
- Sponsor
- Rennes University Hospital
Myotonic Dystrophy 1
Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1)
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder caused by an expanded CTG trinucleotide repeat in the 3' untranslated region of the DMPK gene.
- Trial name
- C-DMCOS-DM1 (NCT06101940)
- Testing
- MRI scan, Electrocardiography, Pulmonary function test
- Where
- 22 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Huashan Hospital
Age-related Hearing Loss, Presbycusis
Genetic Study of Age Related Hearing Loss
Age-related hearing loss, or presbyacusis, is one of the most common chronically handicapped conditions for the elderly. Many factors including genetics, diet, diseases, drugs, socioeconomic factors and environmental variables…
- Trial name
- ARHL (NCT01732289)
- Testing
- genes
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital